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Thursday, April 9, 2015

Hey everyone....I got published! Check out the latest edition, the Winter issue of Down Syndrome World, where I answer a Point/Counterpoint question along with William Mobley, M.D., Ph.D.. I have attached the article here so you can all read it since you have to be a member of Down Syndrome World to read the digital version of the magazine. First of all, read the question. Is that not the MOST biased way they could have worded that question? Ha Ha Ha! Also, keep in mind when you read what Mobley says....that he is a researcher, NOT a clinician. He does NOT see patients, and he says "my training and experience shows that this is not acceptable." Please read the article and leave your comments below. I would love to hear what everyone thinks!

Wednesday, July 23, 2014

Did you hear about what happened at the Tim McGraw concert in Atlanta?? He was singing a song to his wife (Faith Hill) and daughters, called "You Are So Beautiful", when he saw a young fan singing along. This girl has Down syndrome, and he invited her on stage and finished the song by serenading her. Then he autographed the guitar he was playing and handed it to her. Check out the video below....and the photo! What a great guy you are Tim McGraw! :)

Thursday, April 3, 2014

Neal's tutor, Kathy Griffith, found this article and sent it to me. It is a great story about a mom who is also a photographer. She has 5 sons and 1 daughter.....her daughter has Down syndrome. She wanted to celebrate her daughter and began taking photos of her. She asked several businesses if they would use a child with a disability in their ads. To her surprise and delight......they said yes! Read the article , and then go to the website called Changing the Face of Beauty . You will see lots of amazing photos of children with disabilities.

“These people are part of our society and unfortunately, in the
advertising and media world they’re kind of forgotten,” says Driscoll,
of Palos Park, Ill., who emails companies and urges them to take a look.
“We
are influenced by imagery,” she says. “The more people are exposed to
individuals that might be deemed different, the more comfortable they
will be and more opportunity will open up for all people living with a
disability.”

Thursday, March 20, 2014

Are you familiar with World Down Syndrome Day? It is always on March 21st, and it is a day for people with DS to organize and participate in events that bring about awareness of DS and inclusion of people with DS. In support of WDSD, several organizations collaborated on this amazing video. This is for all current moms AND all future moms of children with Down syndrome. It will warm your heart!

Wednesday, September 25, 2013

Leukemia gene found in Down syndrome kids

Jiji PressA team of Japanese researchers including Hirosaki University Prof. Etsuro Ito has discovered genes causing a type of leukemia mainly in children with Down syndrome.

The findings, published in Sunday’s edition of U.S. science journal Nature Genetics, may help in developing an effective drug for the genes, the team said.

About 5 percent to 10 percent of perinatal infants with Down syndrome have transient abnormal myelopoiesis (TAM), a disease that causes an abnormal rise in blood cells.

Though TAM is self-limiting in many cases, 20 percent to 30 percent of patients develop acute megakaryoblastic leukemia (AMKL), which can be fatal, within three years.

The team analyzed gene samples collected from 90 children with TAM or AMKL and found mutations in a gene related to blood cell proliferation in all of them. In 65 percent of the children with AMKL, mutations were found in a gene related to cohesin complex, a protein complex that plays a key role in cell division, the team said.

People with Down syndrome have three copies of chromosome 21, compared with the normal two.

TAM may occur as the result of interaction between the mutations in the blood cell proliferation-related gene and the abnormality in chromosome 21.

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The insertion of one gene can muzzle the extra copy of chromosome 21 that causes Down’s syndrome, according to a study published today in Nature1. The method could help researchers to identify the cellular pathways behind the disorder's symptoms, and to design targeted treatments.

“It’s a strategy that can be applied in multiple ways, and I think can be useful right now,” says Jeanne Lawrence, a cell biologist at the University of Massachusetts Medical School in Worcester, and the lead author of the study.

Lawrence and her team devised an approach to mimic the natural process that silences one of the two X chromosomes carried by all female mammals. Both chromosomes contain a gene called XIST (the X-inactivation gene), which, when activated, produces an RNA molecule that coats the surface of a chromosome like a blanket, blocking other genes from being expressed. In female mammals, one copy of the XIST gene is activated — silencing the X chromosome on which it resides.

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Lawrence’s team spliced the XIST gene into one of the three copies of chromosome 21 in cells from a person with Down’s syndrome. The team also inserted a genetic 'switch' that allowed them to turn on XIST by dosing the cells with the antibiotic doxycycline. Doing so dampened expression of individual genes along chromosome 21 that are thought to contribute to the pervasive developmental problems that comprise Down's syndrome.

First steps

The experiment used induced pluripotent stem cells, which can develop into many different types of mature cells, so the researchers hope that one day they will be able to study the effects of Down’s syndrome in different organs and tissue types. That work could lead to treatments that address degenerative symptoms of Down’s syndrome, such as the tendency of people with the disorder to develop early dementia.

“The idea of shutting off a whole chromosome is extremely interesting” in Down’s syndrome research, says stem-cell researcher Nissim Benvenisty of Hebrew University in Jerusalem. He anticipates future studies that split altered cells into two batches — one with the extra chromosome 21 turned on, and one with it off — to compare how they function and respond to treatments.

Researchers have previously removed the extra chromosome in cells from people with Down’s syndrome using a different type of genetic modification2. That technique relied on the fact that induced pluripotent stem cells that carry the third copy of chromosome 21 occasionally boot it out naturally — but "it’s a pain in the neck”, says Mitchell Weiss, a stem-cell researcher at the Children’s Hospital of Philadelphia in Pennsylvania. “You can’t control it.”

However, Weiss says that the latest method has its own drawbacks: turning on XIST may not block all gene expression in the extra chromosome, and that could muddle experimental results.

Still, Weiss thinks that the approach could yield fresh treatments for Down's syndrome — and prove useful for studying other chromosome disorders such as Patau syndrome, a developmental disorder caused by a third copy of chromosome 13.

Researchers at Johns Hopkins and the National Institutes of Health have identified a compound that dramatically bolsters learning and memory when given to mice with a Down syndrome-like conditionon the day of birth. As they report in the Sept. 4 issue of Science Translational Medicine, the single-dose treatment appears to enable the cerebellum of the rodents’ brains to grow to a normal size.

The scientists caution that use of the compound, a small molecule known as a sonic hedgehog pathway agonist, has not been proven safe to try in people with Down syndrome, but say their experiments hold promise for developing drugs like it.

“Most people with Down syndrome have a cerebellum that’s about 60 percent of the normal size,” says Roger Reeves, Ph.D., a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. “We treated the Down syndrome-like mice with a compound we thought might normalize the cerebellum’s growth, and it worked beautifully. What we didn’t expect were the effects on learning and memory, which are generally controlled by the hippocampus, not the cerebellum.”

Reeves has devoted his career to studying Down syndrome, a condition that occurs when people have three, rather than the usual two, copies of chromosome 21. As a result of this “trisomy,” people with Down syndrome have extra copies of the more than 300 genes housed on that chromosome, which leads to intellectual disabilities, distinctive facial features and sometimes heart problems andother health effects. Since the condition involves so many genes, developing treatments for it is a formidable challenge, Reeves says.

For the current experiments, Reeves and his colleagues used mice that were genetically engineered to have extra copies of about half of the genes found on human chromosome 21.

The mice have many characteristics similar to those of people with Down syndrome, including relatively small cerebellums and difficulty learning and remembering how to navigate through a familiar space. (In the case of the mice, this was tested by tracking how readily the animals located a platform while swimming in a so-called water maze.)

Based on previous experiments on how Down syndrome affects brain development, the researchers tried supercharging a biochemical chain of events known as the sonic hedgehog pathway that triggers growth and development. They used a compound — a sonic hedgehog pathway agonist — that could do just that.

The compound was injected into the Down syndrome-like mice just once, on the day of birth, while their cerebellums were still developing. “We were able to completely normalize growth of the cerebellum through adulthood with that single injection,” Reeves says.

But the research team went beyond measuring the cerebellums, looking for changes in behavior, too. “Making the animals, synthesizing the compound and guessing the right dose were so difficult and time-consuming that we wanted to get as much data out of the experiment as we could,” Reeves says. The team tested the treated mice against untreated Down syndrome-like mice and normal mice in a variety of ways, and found that the treated mice did just as well as the normal ones on the water maze test.

Reeves says further research is needed to learn why exactly the treatment works, because their examination of certain cells in the hippocampus known to be involved in learning and affected by Down syndrome appeared unchanged by the sonic hedgehog agonist treatment. One idea is that the treatment improved learning by strengthening communication between the cerebellum and the hippocampus, he says.

As for the compound’s potential to become a human drug, the problem, Reeves says, is that altering an important biological chain of events like sonic hedgehog would likely have many unintended effects throughout the body, such as raising the risk of cancer by triggering inappropriate growth. But now that the team has seen the potential of this strategy, they will look for more targeted ways to safely harness the power of sonic hedgehog in the cerebellum. Even if his team succeeds in developing a clinically useful drug, however, Reeves cautions that it wouldn’t constitute a “cure” for the learning and memory-related effects of Down syndrome. “Down syndrome is very complex, and nobody thinks there’s going to be a silver bullet that normalizes cognition,” he says. “Multiple approaches will be needed.”

Other authors on the paper were Jung H. Shin of the National Institute on Alcohol Abuse and Alcoholism, and Ishita Das, Joo-Min Park, Soo Kyeong Jeon, Hernan Lorenzi, David J. Linden and Paul F. Worley, all of the Johns Hopkins University School of Medicine.

The study was funded by the Down Syndrome Research and Treatment Foundation, Research Down Syndrome, the National Institute of Child Health and Human Development (grant number R01 HD38384), the intramural programs of the National Institute on Alcohol Abuse and Alcoholism, the National Institute of Mental Health (grant number MH51106) and the National Institute of Neurological Disorders and Stroke (grant number R01 NS39156).